OBJECTIVE To examine molecular genetics and prenatal diagnosis of beta-thalassaemia. METHODS The study was conducted at the COMSATS Institute of Information Technology, Sahiwal, Pakistan, from October 2012 to October 2013, and comprised families having children affected by thalassaemia and autosomal recessive b-thalassemia. Blood samples of thalassaemic children and their parents were collect...

Mutations of the adenomatous polyposis coli (APC) gene have recently been shown to play an important role in colorectal tumorigenesis. We investigated mutations of the APC gene in 30 gastric adenomas obtained endoscopically. Mutations of the APC gene were examined by polymerase chain reaction-single-strand conformation polymorphism analysis followed by sequencing of the polymerase chain reactio...

Background: Phenylketonuria as the most common genetic metabolic disorder is the result of disruption of the phenylalanine hydroxylase gene. This study was carried out to explore the phenylalanine hydroxylase gene mutation status of Iranian phenylketonuria patients.    Methods: Blood samples were collected from 30 patients, and hot spot areas of the phenylalanine hydroxylase gene, in...

background: breast cancer is the most common malignancy in iranian women. mutations in brca1 gene is one of the important genetic predisposing factors in breast cancer. this gene is a tumor suppressor that plays an important role in regulating the functions of rad51 protein for strand invasion in homologous recombination repair. methods: the brca1 gene has amplified in the dna isolated from bre...

We have developed a technique to diagnose the alpha- and beta-thalassemia (thal) syndromes using the polymerase chain reaction to amplify cDNA copies of circulating erythroid cell messenger RNA (mRNA) so as to quantitate the relative amounts of alpha-, beta-, and gamma-globin mRNA contained therein. Quantitation, performed by scintillation counting of 32P-dCTP incorporated into specific globin ...

Background & Aims: Tyrosinase is the most important enzyme in the production of pigments of the skin, eyes, and hair follicles. The enzyme is encoded by tyrosinase gene (TYR) or oculocutaneous albinism type 1A (OCA1A). Mutations in TYR gene result in pigmentation disorders such as albinism in humans. In view of the large number of mutations reported in this gene, the aim of this study was to id...

 Background: Breast cancer is one of the most common cancer of women in the world.  Although different genetic alteration has been reported in this malignancy, but P 53 gene  mutations has more frequency. P 53 gene is one of the most important suppressor genes and it  play a central role in breast cancer and detecting of mutations in this gene would be very helpful in understanding of genetic m...

Perforin gene (PRF1) mutations have been reported in 20-30% of patients with familial hemophagocytic lymphohistiocytosis (FHL), an immune disorder of infancy and early childhood. Cytotoxic T and natural killer (NK) cell activities are remarkably reduced or ab-sent in FHL patients. We report the first cases of familial hemophagocytic lymphohistiocy-tosis in an Iranian family with two siblings. E...